tbuckley/cabot-search huggingface dataset:
Unified views on variant impact across many diseases
Authors: Sushant Kumar, Mark Gerstein
Journal: Trends in Genetics (2023)

Genomic studies of human disorders are often performed by distinct research communities (i.e., focused on rare diseases, common diseases, or cancer). Despite underlying differences in the mechanistic origin of different disease categories, these studies share the goal of identifying causal genomic events that are critical for the clinical manifestation of the disease phenotype. Moreover, these studies face common challenges, including understanding the complex genetic architecture of the disease, deciphering the impact of variants on multiple scales, and interpreting noncoding mutations. Here, we highlight these challenges in depth and argue that properly addressing them will require a more unified vocabulary and approach across disease communities. Toward this goal, we present a unified perspective on relating variant impact to various genomic disorders.
Clinical effectiveness of zoster vaccine live in kidney transplant recipients immunized prior to transplantation: a retrospective single-centre cohort study
Authors: Si-Ho Kim, Kyungmin Huh, Kyo Won Lee, Jae Berm Park, Woo Seong Huh, Jae-Hoon Ko, Sun Young Cho, Cheol-In Kang, Doo Ryeon Chung, Kyong Ran Peck
Journal: Clinical Microbiology and Infection (2023)
Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study
Authors: Agnethe Berglund, Marie J. Ornstrup, Marie Lind-Holst, Morten Dunø, Marie Bækvad-Hansen, Anders Juul, Luise Borch, Niels Jørgensen, Åse K. Rasmussen, Marianne Andersen, Katharina M. Main, Dorte Hansen, Claus H. Gravholt
Journal: The Lancet Regional Health - Europe (2023)

The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic trends for all patients with CAH in Denmark.A nationwide population-based registry study including medical record review.We identified 462 patients (290 females) with any form of CAH. The prevalence of CAH combined was 15.1 (95% confidence interval [CI]: 12.3-16.1) and 9.0 (CI: 7.6-10.4) per 100,000 newborn females and males. There was a prevalence of salt-wasting (SW), simple-virilizing (SV), and non-classic (NC) CAH due to 21-hydroxylase deficiency of: SW-CAH: 6.4 (CI: 5.3-7.6) and 5.6 (CI: 4.6-6.8); SV-CAH: 2.0 (CI: 1.4-2.8) and 1.6 (CI: 1.0-2.7); and NC-CAH: 5.5 (CI: 4.4-6.9) and 2.5 (CI: 1.7-3.7) per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study. There was a female preponderance for SV-CAH (ratio: 1.8) and NC-CAH (ratio: 3.2). Median age at diagnosis, females and males respectively: SW-CAH: 4 (interquartile range [IQR]: 0-11) and 14 (IQR: 8-24) days, SV-CAH: 3.1 (IQR: 1.2-6.6) and 4.8 (IQR: 3.2-6.9) years, and NC-CAH: 15.5 (IQR: 7.9-22.5) and 9.4 (IQR: 7.2-23.2) years.The combined prevalence of CAH was 15.1 and 9.0 per 100,000 newborn females and males, respectively. The female preponderance was primarily due to diagnosis of more females than males with NC-CAH.International Fund of Congenital Adrenal Hyperplasia, Health Research Fund of Central Denmark Region, Aase and Einar Danielsen Fund, and "Fonden til Lægevidenskabens Fremme".
Hydrophobic aerogel-modified hemostatic gauze with thermal management performance
Authors: Xiaoli Jia, Chao Hua, Fengbo Yang, Xiaoxiao Li, Peng Zhao, Feifan Zhou, Yichi Lu, Hao Liang, Malcolm Xing, Guozhong Lyu
Journal: Bioactive Materials (2023)

Current hemostatic agents or dressings are not efficient under extremely hot and cold environments due to deterioration of active ingredients, water evaporation and ice crystal growth. To address these challenges, we engineered a biocompatible hemostatic system with thermoregulatory properties for harsh conditions by combining the asymmetric wetting nano-silica aerogel coated-gauze (AWNSA@G) with a layer-by-layer (LBL) structure. Our AWNSA@G was a dressing with a tunable wettability prepared by spraying the hydrophobic nano-silica aerogel onto the gauze from different distances. The hemostatic time and blood loss of the AWNSA@G were 5.1 and 6.9 times lower than normal gauze in rat's injured femoral artery model. Moreover, the modified gauze was torn off after hemostasis without rebleeding, approximately 23.8 times of peak peeling force lower than normal gauze. For the LBL structure, consisting of the nano-silica aerogel layer and a n-octadecane phase change material layer, in both hot (70 °C) and cold (-27 °C) environments, exhibited dual-functional thermal management and maintained a stable internal temperature. We further verified our composite presented superior blood coagulation effect in extreme environments due to the LBL structure, the pro-coagulant properties of nano-silica aerogel and unidirectional fluid pumping of AWNSA@G. Our work, therefore, shows great hemostasis potential under normal and extreme temperature environments.
Control of Human Spermatogenesis Intrascrotal Temperature
Authors: Derek Robinson
Journal: JAMA (1968)

Alterations of intrascrotal temperature markedly affect spermatogenesis and sperm counts. In euspermic subjects, scrotal exposure for 30 minutes to a 150-watt electric light bulb resulted in reversal of the scrotal-rectal temperature ratio by a mean of 2.9 C. Such treatment on 14 consecutive days caused depression of spermatogenesis followed by rebounds to temporarily high sperm counts. Application of an ice bag to the scrotum for a mean of about 30 minutes cooled the testicular environment by a mean of 6.9 C. Such cold treatment on 14 consecutive days, beginning not less than 12 days following cessation of exposure to heat, stimulated spermatogenesis without initial inhibition, nearly trebling the mean pretreatment count. Oligospermic subjects responded to both heating and cooling faster and to a relatively greater degree, but less predictably, than did euspermics. The greatest increase in spermatogenesis followed sequential application of heat and cold, which suggested possible therapeusis in oligospermia.
Lyme Disease
Authors: David T. Dennis
Journal: JAMA (1991)

Lyme disease, a complex and enigmatic spirochetal illness involving the skin, nervous system, heart, and joints, continues to challenge clinicians, scientists, and public health practitioners. In this issue of<i>JAMA</i>, White et al<sup>1</sup>use both passive and active surveillance to describe the geographic and temporal spread of Lyme disease in New York State. The results of their investigation are cause for concern. In New York, which has logged more cases of Lyme disease than any other state, the number of reported cases has increased fourfold in the 4-year period from 1986 through 1989 as compared with 1982 through 1985, the number of designated Lyme disease—endemic counties has doubled (from four to eight) in the same period, and evidence is presented that the tick vector,<i>Ixodes dammini</i>, has expanded its geographic range. National surveillance data reveal similar trends. Eleven states reported 497 cases of Lyme disease to the Centers for
Trends in national and state-level obesity in the USA after correction for self-report bias: analysis of health surveys
Authors: M. Ezzati
Journal: Journal of the Royal Society of Medicine (2006)

ObjectivesTo quantify population-level bias in self-reported weight and height as a function of age, sex, and the mode of self-report, and to estimate unbiased trends in national and state level obesity in the USA. DesignStatistical analysis of repeated cross-sectional health examination surveys (the National Health and Nutrition Examination Survey [NHANES]) and health surveys (the Behavioral Risk Factor Surveillance System [BRFSS]) in the USA. ResultsIn the USA, on average, women underreported their weight, but men did not. Young and middle-aged (565 years) adult men over-reported their height more than women of the same age. In older age groups, over-reporting of height was similar in men and women. Population-level bias in self-reported weight was larger in telephone interviews (BRFSS) than in-person interviews (NHANES). Except in older adults, height was over-reported more often in telephone interviews than in-person interviews. Using corrected weight and height in the year 2000, Mississippi (31%) and Texas (30%) had the highest prevalence of obesity for men; Texas (37%), Louisiana (37%), Mississippi (37%), District of Columbia (37%), Alabama (37%), and South Carolina (36%) for women. ConclusionsPopulation-level bias in self-reported weight and height is larger in telephone interviews than in-person interviews. Telephone interviews are a low-cost method for regular, nationally- and sub-nationally representative monitoring of obesity. It is possible to obtain corrected estimates of trends and geographical distributions of obesity from telephone interviews by using systematic analysis which measure weight and height from an independent sample of the same population.
Primary Care Physician Supply and the Medically Underserved
Authors: Robert M. Politzer
Journal: JAMA (1991)

QUALITY health care for all Americans has been viewed as an individual right rather than a privilege. Today, many Americans lack access to an ongoing source of primary care and, therefore, to essential clinical preventive services. Differences in health status between subsets of our population continue to be a national embarrassment.<sup>1</sup>Providing equal access to primary health care has been a problem for this nation throughout its history. What is needed... is a body of information and general principles concerning man as a whole and man in society that will provide an intellectual framework into which the lessons of practical experience can be fitted. This background will be partly biologic, but partly it will be social and humanistic, for it will deal with man as a total complex, integrated, social being. Medical schools and teaching hospitals should prepare many more physicians than now exist who will have the desire
Estimates of Physician Requirements for 1990 for the Specialties of Neurology, Anesthesiology, Nuclear Medicine, Pathology, Physical Medicine and Rehabilitation, and Radiology
Authors: Marjorie A. Bowman
Journal: JAMA (1983)

The Graduate Medical Education National Advisory Committee (GMENAC) adjusted needs-based model for determining physician requirements was applied to the specialties of anesthesiology, neurology, nuclear medicine, pathology, physical medicine and rehabilitation, and radiology, which had not been completed at the time of the original GMENAC final report. Physical medicine and rehabilitation continues to be projected as a shortage specialty; anesthesiology is in near balance. Neurology and pathology are no longer projected to be specialties of oversupply, but rather to be in near balance. Diagnostic radiology continues to be projected as a specialty of oversupply; therapeutic radiology is projected to be in near balance, as is nuclear medicine. The GMENAC aggregate-requirements estimates are thus revised upward from 466,000 to 473,000 full-time equivalent physicians for 1990, reducing the projected surplus from 15.0% to 13.3%. (<i>JAMA</i>1983;250:2623-2627)
Pruritus as a Symptom in Hyperthyroidism
Authors: Benjamin Rothfeld
Journal: JAMA (1968)

<h3>To the Editor:—</h3> Pruritus without objective evidence of skin disease is not commonly thought of as a feature of hyperthyroidism. Occasionally this may be the presenting manifestation in hyperthyroidism. My interest in this subject was aroused by the following case: <h3>Report of a Case:—</h3> A 43-year-old woman was seen in May 1962 in the Dermatology Clinic of the Johns Hopkins Hospital because of severe pruritus. In addition, in the preceding six months the patient had noted marked hair loss. The serum protein bound iodine (PBI) level was 10.7μg/100 cc. Because of the elevated value, she was referred to the Endocrine Clinic. In response to specific questioning, the patient gave a history of diminished heat tolerance during the preceding year and of poor appetite and a drop in weight from 170 to 159 lb in the preceding six months. The pertinent finding on physical examination was slight diffuse enlargement of the
Torsion of the Testis
Authors: Lucian L. Leape
Journal: JAMA (1967)

One hundred forty-eight consecutive cases of scrotal pain and swelling in boys under the age of 16 have been reviewed. Eighty-nine of these suffered from torsion, either of the testis or appendix testis. Similarity in clinical history and physical findings makes differentiation of torsion from epididymo-orchitis difficult. Operation in all appears to be the only safe treatment. Delay in operation is disastrous with no testicular salvage after 24 hours. On the other hand, 17 of 19 operated upon on the day of onset of symptoms had viable testes.
Cardiac Rehabilitation After Myocardial Infarction
Authors: Neil B. Oldridge
Journal: JAMA (1988)

Randomized clinical trials of cardiac rehabilitation following myocardial infarction have typically demonstrated a lower mortality in treated patients, but with a statistically significant reduction in only one trial. To overcome the problem of not being able to detect small but clinically important benefits in mortality in randomized clinical trials of exercise and risk factor rehabilitation after myocardial infarction with small numbers of patients, we carried out a meta-analysis on the combined results of ten randomized clinical trials that included 4347 patients (control, 2145 patients; rehabilitation, 2202 patients). The pooled odds ratios of 0.76 (95% confidence intervals, 0.63 to 0.92) for all-cause death and of 0.75 (95% confidence intervals, 0.62 to 0.93) for cardiovascular death were significantly lower in the rehabilitation group than in the control group, with no significant difference for nonfatal recurrent myocardial infarction. These results suggest that, for appropriately selected patients, comprehensive cardiac rehabilitation has a beneficial effect on mortality but not on nonfatal recurrent myocardial infarction. (<i>JAMA</i>1988;260:945-950)
Evaluation of Rhesus Rotavirus Monovalent and Tetravalent Reassortant Vaccines in US Children
Authors: David I. Bernstein
Journal: JAMA (1995)

<h3>Objective.</h3> —To determine the safety and relative efficacy of two reassortant rhesus rotavirus vaccines over two rotavirus seasons. <h3>Design.</h3> —A prospective, double-masked, placebo-controlled trial. <h3>Setting.</h3> —Twenty-three centers in the United States. <h3>Participants.</h3> —A total of 1006 healthy infants between 4 and 26 weeks of age were enrolled, and 898 received three doses of vaccine or placebo. <h3>Main Outcome Measures.</h3> —Reactogenicity was determined by comparing the incidence of fever, diarrhea, and/or vomiting for 5 days after each dose of vaccine. Rotavirus IgA and neutralizing antibody to rhesus rotavirus and four rotavirus serotypes were measured in a subset of subjects. Relative efficacy was determined by comparing the incidence of rotavirus gastroenteritis after three doses of vaccine or placebo over two rotavirus seasons. <h3>Results.</h3> —Adverse reactions were mild and limited to a small but significant increase in the incidence of fever after the first dose of tetravalent but not monovalent vaccine. The relative efficacy against rotavirus disease over the 2 years of observation was 40% (98.3% confidence interval, 7% to 62%) for the monovalent and 57% (98.3% confidence interval, 29% to 74%) for the tetravalent vaccine. In post hoc analyses, the relative efficacy against very severe rotavirus gastroenteritis was 73% and 82% for monovalent and tetravalent vaccine recipients, respectively. Also, a 67% and 78% reduction in medical visits for rotavirus gastroenteritis was observed. Both vaccines protected against disease caused by serotype 1 rotavirus, but only the tetravalent vaccine reduced the incidence of disease caused by non— serotype 1 rotavirus infection detected in the second season. It is unclear, however, whether this result represents serotype-specific protection or a difference in the duration of protection. <h3>Conclusions.</h3> —Vaccination with both vaccines was safe and significantly reduced the incidence of rotavirus gastroenteritis, but only the tetravalent vaccine provided protection against disease caused by non—serotype 1 rotaviruses during the second year of follow-up. (<i>JAMA</i>. 1995;273:1191-1196)
Cyclosporin A and FK-506 in inhibition of rat ito cell activationin vitro
Authors: Hitoshi Ikeda, Kenji Fujiwara
Journal: Hepatology (1995)

Ito cells are the primary matrix-producing cells in the liver. In hepatic fibrosis in vivo or culture on plastic, these cells undergo activation, a process characterized by cell proliferation, fibrogenesis, and smooth muscle α-actin expression. The cytosolic-binding proteins of cyclosporin A (CsA) and FK506 accelerate folding of various proteins including collagen and become inactivated by binding to those agents. CsA is shown to inhibit collagen synthesis in cultured fibroblasts. These findings prompted us to examine the effect of cyclosporin A and FK506 on Ito cell activation. CsA and FK506 reduced DNA synthesis in a dose-related manner, to 26% and 45% of controls at 5 μmol/L, respectively, without affecting total protein synthesis. CsA reduced collagen synthesis in a dose-related manner, to 70% of controls at 5 μmol/L without affecting noncollagenous protein synthesis, whereas FK506 changed neither collagen synthesis nor noncollagenous protein synthesis. Moreover, smooth muscle α-actin expression was reduced by 0.5 μmol/L CsA, but not by FK506. CsA merits consideration for the therapy of hepatic fibrosis. FK506 may also be a candidate for such therapy through inhibitory action on Ito cell proliferation. (Hepatology 1995; 21:1161-1166.)
The Two Cultures and the Health Care Revolution
Authors: John H. McArthur
Journal: JAMA (1997)

The current trend toward the invasion of commerce into medical care, an arena formerly under the exclusive purview of physicians, is seen by the authors as an epic clash of cultures between commercial and professional traditions in the United States. Both have contributed to US society for centuries; both have much to offer in strengthening medical care and reducing costs. At the same time, this invasion by commercialism of an arena formerly governed by professionalism poses severe hazards to the care of the sick and the welfare of communities: the health of the public and the public health. Some of these hazards are briefly listed and reviewed, together with a brief outline of standards that might be established nationally to abate these hazards. A national agency in the private sector is proposed, the National Council on Medical Care, to set standards and provide an approval mechanism that would then be the basis for state enforcement through licensing. Two models for such an initiative are outlined, one based on the National Academy of Sciences as the initiating force, and the other on an initiative provided by a consortium of national charitable foundations interested in health policy. In both cases, wide support from the national foundations would be essential. In the case of the academy model, some government funds might also be available without loss of the freedom of a private-sector initiative. Some operational options for such a national council, its membership, and the conduct of its affairs are briefly outlined as a basis for further discussion.
Myeloid Growth Factors
Authors: Jeffrey Crawford, James Armitage, Lodovico Balducci, Pamela Sue Becker, Douglas W. Blayney, Spero R. Cataland, Mark L. Heaney, Susan Hudock, Dwight D. Kloth, David J. Kuter, Gary H. Lyman, Brandon McMahon, Hope S. Rugo, Ayman A. Saad, Lee S. Schwartzberg, Sepideh Shayani, David P. Steensma, Mahsa Talbott, Saroj Vadhan-Raj, Peter Westervelt, Michael Westmoreland, Mary Dwyer, Maria Ho
Journal: Journal of the National Comprehensive Cancer Network (2013)

Febrile neutropenia, a common side effect of myelosuppressive chemotherapy in patients with cancer, can result in prolonged hospitalization and broad-spectrum antibiotic use, often prompting treatment delays or dose reductions of drug regimens. Prophylactic use of myeloid growth factors (mainly the colony-stimulating factors filgrastim and pegfilgrastim) in patients of heightened risk can reduce the severity and duration of febrile neutropenia. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Myeloid Growth Factors provide recommendations on the use of these agents mainly in the oncology setting based on clinical evidence and expert consensus. This version includes revisions surrounding the issue of timing of pegfilgrastim administration. It also includes new sections on tbo-filgrastim, a recently approved agent that is biologically similar to filgrastim, and the role of myeloid growth factors in the hematopoietic cell transplant setting
Childhood atopic eczema
Authors: R. S. C Barnetson
Journal: BMJ (2002)

<h3>Objective</h3> To explore the association between the psychosocial work environment and the risk of sick leave among governmental employees with symptom-defined post-traumatic stress disorder (PTSD) after a workplace bomb attack. <h3>Design</h3> A prospective study on employees who met the symptom criteria for PTSD. Questionnaire data on the psychosocial work environment 10 months after the terrorist attack was linked to registry data on doctor-certified sick leave in the period 12–22 months after the attack. <h3>Setting</h3> The bombing of the government ministries in Oslo, Norway, 22 July 2011. <h3>Participants</h3> The study sample consists of 94 Norwegian governmental employees, all with symptom-defined PTSD from the Norwegian version of the PTSD checklist (Post-traumatic Stress Disorder Checklist-Specific) measured 10 months after the attack. <h3>Results</h3> After adjustment for sex and severity of PTSD symptoms, predictability at work reduced the odds of sick leave (adjusted OR=0.62, 95% CI 0.40 to 0.98). Sense of control over decisions at work was associated with fewer absence days for employees with sick leave (adjusted rate ratio=0.61, 95% CI 0.38 to 0.98). <h3>Conclusions</h3> Employees with PTSD after workplace terrorism would benefit from control over their workplace conditions and increased predictability to reduce the risk of sick leave. The findings suggest that the work environment can facilitate employees’ work ability after stressful events, independent of severity of PTSD symptoms.
The Reactive Arthritis of Giardiasis
Authors: Robert A. Shaw
Journal: JAMA (1987)

THERE has been little emphasis in the literature on the articular manifestations of parasitism, despite the recognition of an arthritis associated with multiple parasitic infestations. Described herein, with a review of the literature, is a patient with polyarthritis as the presenting feature of giardiasis. <h3>Report of a Case</h3> Five days before admission to the hospital, a 39-year-old physician, previously in excellent health, awoke with right metatarsophalangeal joint pain, swelling, and erythema. Over the next 12 hours, the right ankle became similarly inflamed. The next day, she developed severe watery diarrhea and a nonpruritic, macular, erythematous rash over the trunk and proximal extremities; she noted unusual fatigability and lassitude. Joint symptoms persisted, despite salicylate therapy. The day before admission, she was seen at another hospital; her laboratory examination disclosed multiple normal joint roentgenograms and a leukocytosis (leukocyte count, 12×10<sup>9</sup>/L [12×10<sup>3</sup>/mm<sup>3</sup>] with 0.40 [40%] lymphocytes). A viral